Aneuploidy plays an important role in myriad biological processes. In the case of multicellular organisms, germline and somatic aneuploidy, respectively, have been associated with atypical development and diseases such ...

Despite diet being a major source of cholesterol in Western culture, the absorption and downstream trafficking of cholesterol remain poorly understood processes. In humans, proteins of the NPC1 family are essential for ...

Copy number variants (CNVs) contribute to a substantial amount of diversity both between and among hominid species. In this thesis I set out to catalog this variation across the hominid lineage and assess its impact on the ...

Gene regulatory changes have long been theorized to be a source of evolutionary novelty. In more recent years, we have learned that noncoding changes can have a large effect on phenotype and disease and can be of evolutionary ...

The focus of this work is several evolutionary analyses of endogenous viral sequences in eukaryotic genomes. Endogenous viral sequences can provide key insights into the past forms and evolutionary history of viruses, as ...

When cells die, they don’t simply vanish without a trace. Instead, they leave behind fingerprints of their genetic and epigenetic identities in the form of cell-free DNA (cfDNA), or the scant amount of highly fragmented ...

MCH-expressing neurons have been ascribed many roles based on studies of MCH-deficient mice. However, MCH neurons express other neurotransmitters, including GABA, nesfatin and cocaine-amphetamine-regulated transcript (CART). ...

Chimeric genes are caused by structural genomic rearrangements that fuse together portions of two different genes to create a novel gene. Chimeras may differ from their parent genes in localization, regulation, or function. ...

How do genetic networks control the behavior of an organism? To approach this problem, I chose the model organism C. elegans, a simple metazoan that displays several easily observed behavioral programs such as locomotion, ...

The polyglutamine repeat diseases are a group of dominantly inherited neurodegenerative disorders characterized by progressive degeneration of specific neuronal populations and a shared mutational mechanism involving ...

Autism spectrum disorder (ASD) is a common, heritable neurodevelopmental disorder. In this thesis, I examine how different genetic etiologies, mutation types and specific genes contribute to the risk of ASD, and how these ...

Malaria is an infectious febrile illness caused by four species of Plasmodium parasite, with Plasmodium falciparum responsible for the greatest number of fatalities. Unfortunately, drug resistant strains of P. falciparum ...

Mutations in the paternal effect gene, paternal loss (pal) of Drosophila melanogaster cause loss of only the paternally inherited chromosomes during early embryogenesis. In an effort to better understand the role of the ...

Transcription factors (TFs) are a class of proteins that interact with the genome, dictating which parts of the genome are utilized by a given cell. Despite the central role TFs play in regulating the genome, technologies ...

As more individuals have their genomes sequenced, more genetic variation is discovered. The problem of interpretation of this variation has become intractable using established methods of linking phenotype to genotype, ...

Gene duplication is a fundamental force contributing to the evolution of novel traits, genomic diversity among species and individuals, and disease. In this dissertation, I characterize the evolutionary history, diversity, ...

Breast cancer is the most common cancer among American women and family history is an important risk factor for its occurrence. More than 20 genes have been identified with inherited mutations that lead to significantly ...

The evolutionary history and genetic composition of mammals has been strongly influenced by viruses. This is reflected by evolved mechanisms of host defense mediated by restriction factors that are in an arms race to win ...

Our understanding of gene regulation in plants is constrained by our limited knowledge of plant cis-regulatory DNA and its dynamics. One way in which cis-regulatory elements can be delineated is by their characteristic ...